The Rabbit Anti-UBE3A/E6AP Antibody from MyBioSource.com is a Rabbit Polyclonal antibody to UBE3A, and ubiquitin protein ligase E3A. This antibody recognizes Human antigen. The Rabbit Anti-UBE3A/E6AP Antibody has been shown to work in the following applications: Immunocytochemistry, Immunofluorescence, Immunohistochemistry, and Immunohistochemistry - fixed.
Description
The E3 ubiquitin ligase UBE3A, also known as E6-AP, has a multitude of ascribed functions and targets relevant to human health and disease. Ube3a gene, located on chromosome 15q11.2-q13 region, of which the expression is biallelic in birds, monotremes, marsupials and insects, unlike in mice and humans. In humans, the cause of AS is the loss of function in neurons of the ubiquitin protein ligase E6-AP (E6-Associated Protein) encoded by the UBE3A gene. The functional loss of UBE3A in the maternal allele is due to different genetic mechanisms: (i) deletion of the region 15q11.2-q13 in 70-75% of patients, (ii) mutations in the UBE3A gene in 10-15% of the patients, (iii) paternal uniparental disomy in 1-3% of patients, and (iv) genomic imprinting defects in 2-4% of the patients